Background: and Purpose CGG repeat expansion in the 5' untranslated region (5'UTR) of the Notch 2 N-terminal-like C gene (NOTCH2NLC) has been associated with neuronal intranuclear inclusion disease (NIID) and oculopharyngodistal myopathy type 3 (OPDM3). Few OPDM3 patients have been reported. This report describes two OPDM3 patients with novel imaging findings who presented the typical features of NIID, and reviews all OPDM3 cases available in the literature. Methods: The available clinical, imaging, and pathological information was reviewed and investigated. CGG repeat expansion in the 5'UTR of NOTCH2NLC was tested using the repeatprimed polymerase chain reaction (PCR), followed by the fluorescence amplicon-length PCR to determine the number of CGG repeats. Results: Our two OPDM3 patients and most patients reported in the literature developed the typical clinical characteristics of NIID, including leukoencephalopathy, peripheral neuropathy, cognitive deterioration, pigmentary retinopathy, ataxia, tremor, acute encephalitis-like episodes, pigmentary retinopathy, miosis, and sensorineural hearing loss. In addition to typical imaging findings of NIID, our two patients exhibited diffusion weighted imaging (DWI) hyperintensities in the middle cerebellar peduncles, which have not been described previously. Muscle biopsies revealed rimmed vacuoles and p62-positive intranuclear inclusions in the myofibers in both patients. The skin biopsy performed in one patient detected typical eosinophilic intranuclear inclusions. Genetic analysis identified CGG repeat expansion in NOTCH2NLC as the causative mutation in the two patients. Conclusions Our two patients with OPDM3 had clinical characteristics of NIID and exhibited DWI abnormality in the cerebellum. Our results indicate that OPDM3 is within the spectrum of NIID and that DWI hyperintensities in the cerebellum are helpful for diagnosing NIID or OPDM3.

Background: and Purpose CGG repeat expansion in the 5' untranslated region (5'UTR) of the Notch 2 N-terminal-like C gene (NOTCH2NLC) has been associated with neuronal intranuclear inclusion disease (NIID) and oculopharyngodistal myopathy type 3 (OPDM3). Few OPDM3 patients have been reported. This report describes two OPDM3 patients with novel imaging findings who presented the typical features of NIID, and reviews all OPDM3 cases available in the literature. Methods: The available clinical, imaging, and pathological information was reviewed and investigated. CGG repeat expansion in the 5'UTR of NOTCH2NLC was tested using the repeatprimed polymerase chain reaction (PCR), followed by the fluorescence amplicon-length PCR to determine the number of CGG repeats. Results: Our two OPDM3 patients and most patients reported in the literature developed the typical clinical characteristics of NIID, including leukoencephalopathy, peripheral neuropathy, cognitive deterioration, pigmentary retinopathy, ataxia, tremor, acute encephalitis-like episodes, pigmentary retinopathy, miosis, and sensorineural hearing loss. In addition to typical imaging findings of NIID, our two patients exhibited diffusion weighted imaging (DWI) hyperintensities in the middle cerebellar peduncles, which have not been described previously. Muscle biopsies revealed rimmed vacuoles and p62-positive intranuclear inclusions in the myofibers in both patients. The skin biopsy performed in one patient detected typical eosinophilic intranuclear inclusions. Genetic analysis identified CGG repeat expansion in NOTCH2NLC as the causative mutation in the two patients. Conclusions Our two patients with OPDM3 had clinical characteristics of NIID and exhibited DWI abnormality in the cerebellum. Our results indicate that OPDM3 is within the spectrum of NIID and that DWI hyperintensities in the cerebellum are helpful for diagnosing NIID or OPDM3.

Background: and Purpose CGG repeat expansion in the 5' untranslated region (5'UTR) of the Notch 2 N-terminal-like C gene (NOTCH2NLC) has been associated with neuronal intranuclear inclusion disease (NIID) and oculopharyngodistal myopathy type 3 (OPDM3). Few OPDM3 patients have been reported. This report describes two OPDM3 patients with novel imaging findings who presented the typical features of NIID, and reviews all OPDM3 cases available in the literature. Methods: The available clinical, imaging, and pathological information was reviewed and investigated. CGG repeat expansion in the 5'UTR of NOTCH2NLC was tested using the repeatprimed polymerase chain reaction (PCR), followed by the fluorescence amplicon-length PCR to determine the number of CGG repeats. Results: Our two OPDM3 patients and most patients reported in the literature developed the typical clinical characteristics of NIID, including leukoencephalopathy, peripheral neuropathy, cognitive deterioration, pigmentary retinopathy, ataxia, tremor, acute encephalitis-like episodes, pigmentary retinopathy, miosis, and sensorineural hearing loss. In addition to typical imaging findings of NIID, our two patients exhibited diffusion weighted imaging (DWI) hyperintensities in the middle cerebellar peduncles, which have not been described previously. Muscle biopsies revealed rimmed vacuoles and p62-positive intranuclear inclusions in the myofibers in both patients. The skin biopsy performed in one patient detected typical eosinophilic intranuclear inclusions. Genetic analysis identified CGG repeat expansion in NOTCH2NLC as the causative mutation in the two patients. Conclusions Our two patients with OPDM3 had clinical characteristics of NIID and exhibited DWI abnormality in the cerebellum. Our results indicate that OPDM3 is within the spectrum of NIID and that DWI hyperintensities in the cerebellum are helpful for diagnosing NIID or OPDM3.

Objective:To describe the clinical features of a patient of anti-neurofascin 186 (NF186) antibody associated acute immune sensory polyradiculopathy (AISP), and enhance understanding of AISP/chronic immune sensory polyradiculopathy (CISP).Methods:The clinical characteristics, diagnosis and treatment of a domestic AISP patient with NF186 antibody positive admitted to the First Hospital of Shanxi Medical University in December 2021 were summarized, and the previously reported cases of AISP/CISP were systematically reviewed.Results:The patient was a 62-year-old male with acute onset. The clinical manifestations included severe sensory ataxia, increased protein in cerebrospinal fluid, no response to stimulation of the central segment of somatosensory evoked potentials (SEP), normal sensory and motor nerve conduction, and positive serum anti-NF186 antibody (1∶32). After glucocorticoid treatment, the clinical symptoms and SEP were significantly improved. The drug was stopped for 2 months, and there was no recurrence. There were 23 cases of AISP and CISP with complete data reported in the literature (including this patient). The age of onset was (54.7±17.7) years, and the ratio of male to female was 1.88. Three patients with acute onset were classified as AISP. A total of 95.7% (22/23) of patients showed sensory ataxia without limb weakness, 95.0% (19/20) of patients showed prolonged cortical potential latency or even no response, and 95.5% (21/22) of patients showed increased cerebrospinal fluid protein in varying degrees, and nerve root thickening or abnormal enhancement was not common. All 10 patients receiving immunotherapy responded to corticosteroids or intravenous immune globulin. Only 6 AISP/CISP articles reported screening for anti-ganglioside antibodies or Ranvier′s node-paranodal region-related antibodies, and no positive NF186 antibodies were reported. All the 3 patients with AISP had some characteristics of CISP/chronic inflammatory demyelinating polyradiculoneuropathy, and there was no significant difference between AISP and CISP patients in clinical features except the mode of onset.Conclusions:NF186 antibody could cause AISP, which presents as acute onset sensory ataxia. AISP is responsive to glucocorticoid therapy. Except for the mode of onset, AISP and CISP are difficult to distinguish from clinical, electrophysiological, pathological aspects and pathogenic antibodies, so they may be two different manifestations of the same disease.

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, characterized by eosinophilic transparent inclusions in the central and peripheral nervous systems, and internal organs. NIID clinical characteristics are varied, including cognitive impairment, muscle weakness, episodic symptoms, movement disorders and autonomic dysfunction. This article reports a patient with NIID who manifested with episodes of aphasia, dysgraphia and dyslexia without fever, headache, nausea and vomiting confirmed by genetic testing. The patient was a 62-year-old female with acute onset who was diagnosed with transient ischemic attack. This article aims to improve the knowledge of NIID with stroke-like onset by this case presentation and avoid misdiagnosis.

Objective To investigate the effects of G-CSF-mobilized autologous stem cells in the prevention of radiation pulmonary injury.Methods Mice were divided into control group,irradiation group and treatment group.Mouse model of pulmonary fibrosis was established by exposing chest to a single dose of 14 Gy.Animals in the treatment group received recombinant human G-CSF (250 μg/kg daily for 5 d) before the irradiation in order to mobilize autologous stem cells in vivo.The general condition and mortality were documented after radiation injury.The pathological study with histological scoring,Masson staining and Sirius red staining with polarized light analysis were used to identify lung injury and the potential benefit of stem cell mobilization.Results Local chest irradiation of a single dose of 14 Gy was a suitable dose to create radiation-induced pulmonary fibrosis in mice.The death rate was 37.5％,which mainly happened around 11 weeks after injury.In contrast,all of the animals in G-CSF treated group survived.The ratio of lung to body mass was significantly increased in both irradiation group and treatment group (F =23.20,P＜0.05) around 3 months after the injury,with a higher ratio in irradiation group than that in treatment group (P＜0.05).Histological scoring for alveolar inflammation at 3 months after injury revealed statistically significant difference in irradiation group and treatment group compared with control group (F=11.93,P＜ 0.05).At this time point,the pathological observation showed lung tissue degeneration and necrosis with alveolitis and interstitial inflammation,as well as fibroblasts proliferation and focal collagen deposition in alveolar septa.At 4 month after the injury,the inflammation ininterstitial tissue was receded,but fibrosis and collagen deposition were significantly increased.In addition,at 3 and 4 months afterinjury,the pulmonary fibrosis was aggravated in irradiation group (F=28.73,16.85,P＜0.05),and significantly alleviated in the treatment group (P＜0.05).The similar results were confirmed in collagen content analysis (IOD) by Sirius red staining and image analysis (F =17.70,17.79,P＜ 0.05).Conclusions Autologous mobilization of stem cells could prevent the death of radiation-injured animals possibly by alleviating early lung injury and interstitial inflammation as well as the late pulmonary fibrosis,suggesting a therapeutic potential of autologous stem cell mobilization in radiation pulmonary fibrosis.

Objective To investigate the changes of serum Copeptin and matrix metalloproteinase-9 (MMP-9) in children with chronic heart failure (CHF) and its clinical significance. Methods A total of 186 children with CHF were selected for CHF group, including 78 cases of cardiac function grade Ⅱ, 65 cases of grade Ⅲ, and 43 cases of grade Ⅳ. There were 57 cases of dilated cardiomyopathy, 68 cases of congenital heart disease and 61 cases of other diseases. Another 85 healthy children from health checkup were chosen as controls. The levels of serum Copeptin and MMP-9 were determined by enzyme linked immunosorbent assay (ELISA), and the level of N-terminal pro-brain natriuretic peptide (NT-proBNP) was measured by bidirectional lateral flow immunoassay. The left ventricular end diastolic dimension (LVEDD), left ventricular end systolic dimension (LVESD), left ventricular ejection fraction (LVEF), and left ventricular short fraction shortening (LVFS) were measured by echocardiography. ROC curve was used to analyze the diagnostic value of serum Copeptin and MMP-9 in CHF. The correlation of serum Copeptin and MMP-9 with the cardiac function indices were examined by Pearson correlation analysis. Results The levels of serum copeptin, MMP-9, and NT-proBNP in different cardiac function groups (Ⅱ, Ⅲ, Ⅳ) increased gradually with the aggravation of the cardiac function damage and were higher than those in control group, and the differences were statistically significant (P<0.05). Compared with the control group and cardiac function grade Ⅱ group, the levels of LVESD and LVEDD were increased and the levels of LVEF and LVFS were decreased in the grade Ⅲ and Ⅳ groups. Compared with the grade Ⅲ group, the levels of LVESD and LVEDD were increased and the levels of LVEF and LVFS were decreased in the grade Ⅳ groups. There were significant differences (P<0.05). The ROC curve showed that the area under the curve (AUC) and 95％ CI of serum Copeptin, MMP-9, NT-proBNP and combinations of these three biomarkers in the diagnosis of CHF were 0.845 (0.781～0.914), 0.806 (0.736～0.883), 0.894 (0.828～0.962) and 0.925 (0.846～0.983) respectively, and the optimal thresholds were 12.5 pmol/L, 175.3 μg/L and 2037.0ng/L. The level of serum Copeptin was positively correlated with MMP-9 (r=0.807, P<0.001). Conclusion Serum Copeptin and MMP-9 may be involved in the ventricular remodeling in CHF children and they are expected to be a good indicator for the diagnosis of CHF and cardiac function.

Objective To investigate the role and significance of neuropilin-2(NRP2)for regulating the angiogenesis of pancreatic neuroendocrine tumors(PNETs).Methods The NRP2 expression in pancreatic neuroendocrine tumer BON-1 cell line was intevened.The BON-1 cells cultural supernatants in the control group and interference group were used to treat human umbilical vein endothelial cells(HUVEC).CCK-8 was used to detect the cell proliferation,Transwell was used to detected the cell migration and the tubule formation test was used detect the pro-angiogenesis.Results The CCK-8 detection showed that there was no statistically significant difference in the supernatant treated HUVEC proliferations between the interference group and control group medium(P>0.05):the absorbancy in the control group was 0.35±0.04,while which in the interference group was 0.32±0.04.The Transwell test showed that the invasion ability of HUVEC treated with cultural supernatants in the interference group was weakened compared with the control group,the control group was(203±13)/hole,while the interference group was(100±10)/hole(P＜0.01);the tubule formation test showed that HUVEC tubular formation treated by cultural supernatant in the interference group was decreased,the control group was 40±5,while the interference group was 24±3(P＜0.01).Conclusion Interfering NRP2 expression of BON-1 cells can inhibit the vessel formation ability of co-cultured HUVEC,suggesting that NRP2 may have the pro-angiogenesis effect of PNETs,and may be a potential new target for the treatment of PNETs.

Objective To investigate the effect of leptin on the secretion of chemokine in THP1 cells and explore its related mechanism, and to provide basis for research on the role of leptin in immune response.Methods The expressions of Ob-Rb and Ob-Rt in THP1 cells were detected by RT-PCR and flow cytometry (FCM).The THP1 cells at logarithm growth phase were selected and randomly divided into blank control group and different concentrations(10,50,100,200μg· L-1 )of leptin groups.Transwell chamber assay was performed to detect the number of invated THP1 cells.The THP1 cells were divided into blank control group and 100μg·L-1 leptin group.Western blotting method was carried out to detect the expressions of p-AKT,p-ERK 1/2,and p-STAT3 in THP1 cells.The THP1 cells were divided into blank control group and 100μg·L-1 leptin group,100μg·L-1 leptin+ DMSO group,100μg·L-1 leptin+50μmol·L-1 AG490 group,100μg·L-1 leptin+10μmol·L-1 LY294002 group and 100μg·L-1 leptin+ 10 mol·L-1 PD980590 group.RT-PCR and Western blotting methods were performed to detect the expression of IL-8.Results Ob-Rb and Ob-Rt were highly expressed in THP1 cells. Compared with blank control group,the number of invated THP1 cells was significantly increased in 50,100,and 200μg·L-1 leptin groups (P<0.05).Compared with blank control group,the expressions of p-STAT3,p-ERK 1/2 and p-AKT in THP1 cells were up-regulated in 100 ug·L-1 leptin group(P<0.05).Compared with blank control group,the mRNA and protein expressions of IL8 in THP1 cells in 50,100,and 200μg·L-1 leptin groups were remarkably increased(P<0.05);compared with 100μg·L-1 leptin group,the expressions of IL-8 in THP1 cells in 100μg·L-1 leptin+10 mol·L-1 PD980590 group and 100μg·L-1 leptin+10μmol·L-1 LY2 94002 group were decreased(P<0.05),while the expression of IL-8 in 100μg·L-1 leptin+ 50μmol·L-1 AG490 group had no change(P>0.05).Conclusion leptin can up-regulate the expression of chemokine in THP1 cells,which might be associated with PI3K-AKT and MAPK/ERK 1/2 signaling pathways.

Objective To study the method of using phantom test for daily quality assurance of on board image(OBI) system. Methods The routine procedures of radiotherapy, including CT simulation, planning,setup,cone beam CT(CBCT) scan and kilovolt X-ray orthogonal film were carried out on a head phantom. The procedures repeated once a day in the following 10 days. The geometric errors of the phantom were recorded. Results The geometric errors of the phantom by CBCT were [0.06±0.11] cm, [0.03±0.05] cm, [0.07±0.07] cm and [0.03±0.10] cm in longitudinal, vertical, lateral and rotation directions, respectively. The geometric errors of the phantom by kilovolt X-ray orthogonal film were [ 0.04±0.10] cm, [0.03±0.05] cm, [0.08±0.06] cm and [0.05±0.05] cm, respectively. The differences of geometric errors of the phantom by CBCT and kilovolt X-ray orthogonal film were not significant(t = 0.44,P=0.667 in longitudinal direction ; t=0.00, P=1.060 in vertical direction ; t=0.34, P=0.735 in lateral direction; t=0.58,P=0.568 in rotation direction). Conclusions The OBI system of our accelerator is reliable and at excellent performance status. The method by using phantom test for the daily quality assurance of OBI system is easy and reliable.